D55G (p.Asp55Gly) variant of FH (P07954)
D55G (p.Asp55Gly) in FH (P07954) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.94 / 1. The record also includes structural context.
D55G (p.Asp55Gly) variant details
- p.Asp55Gly
- rs1660245400
- ClinGen CA345441969
- ClinVar RCV002563200
- Ensembl rs1660245400
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.944
- AlphaMissense 1.00
- MetaLR 0.97
- MetaSVM 1.09
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.93
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available